Linked Data
dbSNP Id:
rs757879456
ExAC:
17:39023307 TC / T
gnomAD v2:
17-39023307-TC-T
gnomAD v4:
17-40867055-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867060del , CM000679.2:g.40867060del | GRCh38 |
| NC_000017.10:g.39023312del , CM000679.1:g.39023312del | GRCh37 |
| NC_000017.9:g.36276838del | NCBI36 |
| NG_008077.1:g.5155del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.131del MANE Select | ENSP00000251643.4:p.Gly44GlufsTer? | |
| ENST00000647902.1:c.131del | ENSP00000497770.1:p.Gly44GlufsTer? | |
| ENST00000251643.4:c.131del | ENSP00000251643.4:p.Gly44GlufsTer? | |
| NM_000223.3:c.131del | NP_000214.1:p.Gly44GlufsTer? | |
| XR_934754.1:n.1500+16200del | ||
| XR_934754.2:n.2008+16200del | ||
| NM_000223.4:c.131del MANE Select | NP_000214.1:p.Gly44GlufsTer? |